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1197155007: nemalinemyopathie type Amish (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4695201019 Amish nemaline myopathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4695202014 Amish nemaline myopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
13591041000146116 Amish-gerelateerde 'rod body'-myopathie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13591051000146118 nemalinemyopathie type Amish (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13591061000146115 nemalinemyopathie type Amish nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4695203016 A type of nemaline myopathy only observed in several families of the Amish community. It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subside after 2-3 months of age. The causative gene is TNNT1 (19q13.4) and transmission follows an autosomal recessive pattern. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Amish nemaline myopathy (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Amish nemaline myopathy (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Amish nemaline myopathy (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 1
Amish nemaline myopathy (disorder) Is a Nemaline myopathy, early onset type true Inferred relationship Some
Amish nemaline myopathy (disorder) Occurrence Congenital true Inferred relationship Some 1
Amish nemaline myopathy (disorder) Is a Hereditary myopathy (disorder) true Inferred relationship Some
Amish nemaline myopathy (disorder) Interprets Movement true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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